Canonical Allele Identifier: CA1139664608

Gene: PALB2

Linked Data

• ClinVar Variation Id: 920336
• ClinVar RCV Id: RCV001179006
• dbSNP Id: rs1966393963

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603449_23603469del , CM000678.2:g.23603449_23603469del	GRCh38
NC_000016.9:g.23614770_23614790del , CM000678.1:g.23614770_23614790del	GRCh37
NC_000016.8:g.23522271_23522291del	NCBI36
NG_007406.1:g.42890_42910del , LRG_308:g.42890_42910del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3558_*11del	ENSP00000460666.3:n.[c.3558_*11del;His1186GlnfsTer2]
ENST00000565038.2:c.*1037_*1057del	ENSP00000459882.2:n.*1037_*1057del
ENST00000566069.6:c.*187_*207del	ENSP00000459237.2:n.*187_*207del
ENST00000697377.2:c.3396_*11del	ENSP00000513286.2:n.[c.3396_*11del;His1132GlnfsTer2]
ENST00000697379.2:c.3558_*11del	ENSP00000513287.2:n.[c.3558_*11del;His1186GlnfsTer2]
ENST00000561514.2:c.2667_*11del	ENSP00000460666.2:n.[c.2667_*11del;His889GlnfsTer2]
ENST00000697374.1:c.2667_*11del	ENSP00000513284.1:n.[c.2667_*11del;His889GlnfsTer2]
ENST00000697375.1:n.4899_4919del
ENST00000697376.1:c.*187_*207del	ENSP00000513285.1:n.*187_*207del
ENST00000697377.1:c.2505_*11del	ENSP00000513286.1:n.[c.2505_*11del;His835GlnfsTer2]
ENST00000697378.1:n.4072_4092del
ENST00000697379.1:c.2667_*11del	ENSP00000513287.1:n.[c.2667_*11del;His889GlnfsTer2]
ENST00000697380.1:n.2756_2776del
ENST00000697381.1:n.2247_2267del
ENST00000697382.1:c.*329_*349del	ENSP00000513288.1:n.*329_*349del
ENST00000697383.1:c.1086_*11del	ENSP00000513289.1:n.[c.1086_*11del;His362GlnfsTer2]
ENST00000261584.9:c.3552_*11del MANE Select	ENSP00000261584.4:n.[c.3552_*11del;His1184GlnfsTer2]
ENST00000261584.8:c.3552_*11del	ENSP00000261584.4:n.[c.3552_*11del;His1184GlnfsTer2]
ENST00000566069.5:c.318_338del
ENST00000568219.5:c.2667_*11del	ENSP00000454703.2:n.[c.2667_*11del;His889GlnfsTer2]
NM_024675.3:c.3552_*11del , LRG_308t1:c.3552_*11del	NP_078951.2:n.[c.3552_*11del;His1184GlnfsTer2]
XM_011545946.1:c.3558_*11del	XP_011544248.1:n.[c.3558_*11del;His1186GlnfsTer2]
XM_011545947.1:c.*187_*207del	XP_011544249.1:n.*187_*207del
XM_011545948.1:c.2667_*11del	XP_011544250.1:n.[c.2667_*11del;His889GlnfsTer2]
XR_950851.1:n.4260_4280del
XM_011545946.2:c.3558_*11del	XP_011544248.1:n.[c.3558_*11del;His1186GlnfsTer2]
XM_011545947.2:c.*187_*207del	XP_011544249.1:n.*187_*207del
XM_011545948.2:c.2667_*11del	XP_011544250.1:n.[c.2667_*11del;His889GlnfsTer2]
XM_017023671.1:c.3321_*11del	XP_016879160.1:n.[c.3321_*11del;His1107GlnfsTer2]
XM_017023672.2:c.3315_*11del	XP_016879161.1:n.[c.3315_*11del;His1105GlnfsTer2]
XM_017023673.2:c.*187_*207del	XP_016879162.1:n.*187_*207del
NM_024675.4:c.3552_*11del MANE Select	NP_078951.2:n.[c.3552_*11del;His1184GlnfsTer2]